Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	1282
Gene name	Collagen type IV alpha 1 chain
Gene symbol	COL4A1
Synonyms (NCBI Gene)	BSVDBSVD1COL4A1sPADMALRATOR
Chromosome	13
Chromosome location	13q34
Summary	This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal

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SNP ID	Visualize variation	Clinical significance	Consequence
rs75711155	A>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs113994104	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs113994105	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs113994106	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs113994107	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs113994108	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs113994109	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs113994111	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs113994112	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs113994113	C>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs113994114	C>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121912857	C>G,T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs145172612	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs150129180	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs183563055	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs200786329	G>A	Risk-factor, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs267606743	C>T	Pathogenic	Coding sequence variant, missense variant
rs267606744	C>G	Pathogenic	Coding sequence variant, missense variant
rs281865426	CC>AA	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs397514624	G>A,C,T	Risk-factor	Coding sequence variant, genic downstream transcript variant, synonymous variant, missense variant
rs567124920	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs587777379	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs587780588	C>T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs606231464	G>-,GG	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs606231465	C>T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs672601346	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs672601347	C>G,T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs672601348	G>A,C	Pathogenic	Genic downstream transcript variant, synonymous variant, missense variant, coding sequence variant
rs672601349	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs747585517	G>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs797044867	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs797045034	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs886041714	C>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs886041965	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1057517719	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518100	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1057518654	T>C	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs1057523325	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1057523354	C>A	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1064794777	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1064795130	C>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1064795935	C>T	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1064796811	C>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1085307568	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1085307614	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1085307709	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1085307816	C>T	Pathogenic	Splice donor variant
rs1085307907	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1085307967	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1085307982	C>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1131691834	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1461754052	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555302449	C>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555302454	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555302645	C>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1555302735	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1555302922	C>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555302942	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555303010	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555303073	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555303720	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555305682	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1566349968	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1566351456	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1566353677	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1566370178	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1594550371	C>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1594555106	C>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1594560766	C>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1594566006	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1594566751	T>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1594568948	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1594579579	->G	Pathogenic	Frameshift variant, coding sequence variant

468

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miRTarBase ID	miRNA	Experiments	Reference
MIRT001927	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT001927	hsa-miR-29c-3p	Luciferase reporter assay	18390668
MIRT003221	hsa-miR-29a-3p	Luciferase reporter assayqRT-PCRWestern blot	20067797
MIRT003221	hsa-miR-29a-3p	Luciferase reporter assayqRT-PCRWestern blot	20067797
MIRT003221	hsa-miR-29a-3p	Luciferase reporter assayqRT-PCRWestern blot	20067797
MIRT003221	hsa-miR-29a-3p	Luciferase reporter assayqRT-PCRWestern blot	20067797
MIRT005568	hsa-miR-29b-3p	Luciferase reporter assayqRT-PCRWestern blot	20657750
MIRT005568	hsa-miR-29b-3p	Luciferase reporter assayqRT-PCRWestern blot	20657750
MIRT006821	hsa-miR-21-5p	Luciferase reporter assayqRT-PCR	22573493
MIRT001927	hsa-miR-29c-3p	Sequencing	20371350
MIRT001927	hsa-miR-29c-3p	Reporter assay;Other	18390668
MIRT022172	hsa-miR-124-3p	Microarray	18668037
MIRT024242	hsa-miR-218-5p	Sequencing	20371350
MIRT051073	hsa-miR-16-5p	CLASH	23622248
MIRT049483	hsa-miR-92a-3p	CLASH	23622248
MIRT048676	hsa-miR-99a-5p	CLASH	23622248
MIRT048584	hsa-miR-100-5p	CLASH	23622248
MIRT045748	hsa-miR-125a-5p	CLASH	23622248
MIRT041389	hsa-miR-193b-3p	CLASH	23622248
MIRT040877	hsa-miR-18a-3p	CLASH	23622248
MIRT039089	hsa-miR-769-3p	CLASH	23622248
MIRT005568	hsa-miR-29b-3p	Microarray	22942087
MIRT054906	hsa-miR-637	qRT-PCR	23362149
MIRT003221	hsa-miR-29a-3p	Luciferase reporter assay	22745231
MIRT005568	hsa-miR-29b-3p	Luciferase reporter assay	22745231
MIRT001927	hsa-miR-29c-3p	Luciferase reporter assay	22745231
MIRT437564	hsa-miR-767-5p	Luciferase reporter assay	22745231
MIRT704515	hsa-miR-4318	HITS-CLIP	23313552
MIRT704514	hsa-miR-892a	HITS-CLIP	23313552
MIRT704513	hsa-miR-4272	HITS-CLIP	23313552
MIRT704512	hsa-miR-4709-5p	HITS-CLIP	23313552
MIRT704511	hsa-miR-4693-5p	HITS-CLIP	23313552
MIRT704510	hsa-miR-7159-5p	HITS-CLIP	23313552
MIRT704509	hsa-miR-505-3p	HITS-CLIP	23313552
MIRT704508	hsa-miR-421	HITS-CLIP	23313552
MIRT704507	hsa-miR-8070	HITS-CLIP	23313552
MIRT704506	hsa-miR-498	HITS-CLIP	23313552
MIRT704505	hsa-miR-1305	HITS-CLIP	23313552
MIRT704504	hsa-miR-335-3p	HITS-CLIP	23313552
MIRT001927	hsa-miR-29c-3p	PAR-CLIP	20371350
MIRT005568	hsa-miR-29b-3p	PAR-CLIP	20371350
MIRT003221	hsa-miR-29a-3p	PAR-CLIP	20371350
MIRT494164	hsa-miR-495-3p	PAR-CLIP	20371350
MIRT494163	hsa-miR-5688	PAR-CLIP	20371350
MIRT494162	hsa-miR-7-1-3p	PAR-CLIP	20371350
MIRT494161	hsa-miR-7-2-3p	PAR-CLIP	20371350
MIRT494160	hsa-miR-562	PAR-CLIP	20371350
MIRT494158	hsa-miR-6871-3p	PAR-CLIP	20371350
MIRT494159	hsa-miR-4716-5p	PAR-CLIP	20371350
MIRT494157	hsa-miR-3185	PAR-CLIP	20371350
MIRT437564	hsa-miR-767-5p	PAR-CLIP	20371350
MIRT494156	hsa-miR-4504	PAR-CLIP	20371350
MIRT494155	hsa-miR-542-3p	PAR-CLIP	20371350
MIRT494154	hsa-miR-5682	PAR-CLIP	20371350
MIRT494153	hsa-miR-6808-3p	PAR-CLIP	20371350
MIRT524405	hsa-miR-758-3p	PAR-CLIP	20371350
MIRT001927	hsa-miR-29c-3p	PAR-CLIP	20371350
MIRT005568	hsa-miR-29b-3p	PAR-CLIP	20371350
MIRT003221	hsa-miR-29a-3p	PAR-CLIP	20371350
MIRT494160	hsa-miR-562	PAR-CLIP	20371350
MIRT494158	hsa-miR-6871-3p	PAR-CLIP	20371350
MIRT494159	hsa-miR-4716-5p	PAR-CLIP	20371350
MIRT494157	hsa-miR-3185	PAR-CLIP	20371350
MIRT437564	hsa-miR-767-5p	PAR-CLIP	20371350
MIRT494156	hsa-miR-4504	PAR-CLIP	20371350
MIRT494155	hsa-miR-542-3p	PAR-CLIP	20371350
MIRT494154	hsa-miR-5682	PAR-CLIP	20371350
MIRT494153	hsa-miR-6808-3p	PAR-CLIP	20371350
MIRT524405	hsa-miR-758-3p	PAR-CLIP	20371350
MIRT001927	hsa-miR-29c-3p	PAR-CLIP	23446348
MIRT005568	hsa-miR-29b-3p	PAR-CLIP	23446348
MIRT003221	hsa-miR-29a-3p	PAR-CLIP	23446348
MIRT494164	hsa-miR-495-3p	PAR-CLIP	23446348
MIRT494163	hsa-miR-5688	PAR-CLIP	23446348
MIRT494162	hsa-miR-7-1-3p	PAR-CLIP	23446348
MIRT494161	hsa-miR-7-2-3p	PAR-CLIP	23446348
MIRT494160	hsa-miR-562	PAR-CLIP	23446348
MIRT494158	hsa-miR-6871-3p	PAR-CLIP	23446348
MIRT494159	hsa-miR-4716-5p	PAR-CLIP	23446348
MIRT494157	hsa-miR-3185	PAR-CLIP	23446348
MIRT437564	hsa-miR-767-5p	PAR-CLIP	23446348
MIRT494156	hsa-miR-4504	PAR-CLIP	23446348
MIRT494155	hsa-miR-542-3p	PAR-CLIP	23446348
MIRT494154	hsa-miR-5682	PAR-CLIP	23446348
MIRT494153	hsa-miR-6808-3p	PAR-CLIP	23446348
MIRT524405	hsa-miR-758-3p	PAR-CLIP	23446348
MIRT001927	hsa-miR-29c-3p	PAR-CLIP	23592263
MIRT005568	hsa-miR-29b-3p	PAR-CLIP	23592263
MIRT003221	hsa-miR-29a-3p	PAR-CLIP	23592263
MIRT494164	hsa-miR-495-3p	PAR-CLIP	23592263
MIRT494163	hsa-miR-5688	PAR-CLIP	23592263
MIRT494162	hsa-miR-7-1-3p	PAR-CLIP	23592263
MIRT494161	hsa-miR-7-2-3p	PAR-CLIP	23592263
MIRT494160	hsa-miR-562	PAR-CLIP	23592263
MIRT494158	hsa-miR-6871-3p	PAR-CLIP	23592263
MIRT494159	hsa-miR-4716-5p	PAR-CLIP	23592263
MIRT494157	hsa-miR-3185	PAR-CLIP	23592263
MIRT437564	hsa-miR-767-5p	PAR-CLIP	23592263
MIRT494156	hsa-miR-4504	PAR-CLIP	23592263
MIRT494155	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT494154	hsa-miR-5682	PAR-CLIP	23592263
MIRT494153	hsa-miR-6808-3p	PAR-CLIP	23592263
MIRT024242	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT024242	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT003221	hsa-miR-29a-3p	5.0	27666438
MIRT003221	hsa-miR-29a-3p	5.0	27666438
MIRT003221	hsa-miR-29a-3p	5.0	27666438
MIRT003221	hsa-miR-29a-3p	5.0	27666438
MIRT005568	hsa-miR-29b-3p	5.0	27666438
MIRT005568	hsa-miR-29b-3p	5.0	27666438
MIRT005568	hsa-miR-29b-3p	5.0	27666438
MIRT005568	hsa-miR-29b-3p	5.0	27666438
MIRT001927	hsa-miR-29c-3p	5.0	27666438
MIRT001927	hsa-miR-29c-3p	5.0	27666438
MIRT001927	hsa-miR-29c-3p	5.0	27666438
MIRT001927	hsa-miR-29c-3p	5.0	27666438
MIRT734988	hsa-miR-429	qRT-PCR	33079247
MIRT704515	hsa-miR-4318	HITS-CLIP	23313552
MIRT704514	hsa-miR-892a	HITS-CLIP	23313552
MIRT704513	hsa-miR-4272	HITS-CLIP	23313552
MIRT704512	hsa-miR-4709-5p	HITS-CLIP	23313552
MIRT704511	hsa-miR-4693-5p	HITS-CLIP	23313552
MIRT704510	hsa-miR-7159-5p	HITS-CLIP	23313552
MIRT704509	hsa-miR-505-3p	HITS-CLIP	23313552
MIRT704508	hsa-miR-421	HITS-CLIP	23313552
MIRT704507	hsa-miR-8070	HITS-CLIP	23313552
MIRT704506	hsa-miR-498	HITS-CLIP	23313552
MIRT704505	hsa-miR-1305	HITS-CLIP	23313552
MIRT704504	hsa-miR-335-3p	HITS-CLIP	23313552
MIRT001927	hsa-miR-29c-3p	PAR-CLIP	20371350
MIRT005568	hsa-miR-29b-3p	PAR-CLIP	20371350
MIRT003221	hsa-miR-29a-3p	PAR-CLIP	20371350
MIRT494164	hsa-miR-495-3p	PAR-CLIP	20371350
MIRT494163	hsa-miR-5688	PAR-CLIP	20371350
MIRT494162	hsa-miR-7-1-3p	PAR-CLIP	20371350
MIRT494161	hsa-miR-7-2-3p	PAR-CLIP	20371350
MIRT494160	hsa-miR-562	PAR-CLIP	20371350
MIRT494158	hsa-miR-6871-3p	PAR-CLIP	20371350
MIRT494159	hsa-miR-4716-5p	PAR-CLIP	20371350
MIRT494157	hsa-miR-3185	PAR-CLIP	20371350
MIRT437564	hsa-miR-767-5p	PAR-CLIP	20371350
MIRT494156	hsa-miR-4504	PAR-CLIP	20371350
MIRT494155	hsa-miR-542-3p	PAR-CLIP	20371350
MIRT494154	hsa-miR-5682	PAR-CLIP	20371350
MIRT494153	hsa-miR-6808-3p	PAR-CLIP	20371350
MIRT524405	hsa-miR-758-3p	PAR-CLIP	20371350
MIRT001927	hsa-miR-29c-3p	PAR-CLIP	20371350
MIRT005568	hsa-miR-29b-3p	PAR-CLIP	20371350
MIRT003221	hsa-miR-29a-3p	PAR-CLIP	20371350
MIRT494160	hsa-miR-562	PAR-CLIP	20371350
MIRT494158	hsa-miR-6871-3p	PAR-CLIP	20371350
MIRT494159	hsa-miR-4716-5p	PAR-CLIP	20371350
MIRT494157	hsa-miR-3185	PAR-CLIP	20371350
MIRT437564	hsa-miR-767-5p	PAR-CLIP	20371350
MIRT494156	hsa-miR-4504	PAR-CLIP	20371350
MIRT494155	hsa-miR-542-3p	PAR-CLIP	20371350
MIRT494154	hsa-miR-5682	PAR-CLIP	20371350
MIRT494153	hsa-miR-6808-3p	PAR-CLIP	20371350
MIRT524405	hsa-miR-758-3p	PAR-CLIP	20371350
MIRT001927	hsa-miR-29c-3p	PAR-CLIP	23446348
MIRT005568	hsa-miR-29b-3p	PAR-CLIP	23446348
MIRT003221	hsa-miR-29a-3p	PAR-CLIP	23446348
MIRT494164	hsa-miR-495-3p	PAR-CLIP	23446348
MIRT494163	hsa-miR-5688	PAR-CLIP	23446348
MIRT494162	hsa-miR-7-1-3p	PAR-CLIP	23446348
MIRT494161	hsa-miR-7-2-3p	PAR-CLIP	23446348
MIRT494160	hsa-miR-562	PAR-CLIP	23446348
MIRT494158	hsa-miR-6871-3p	PAR-CLIP	23446348
MIRT494159	hsa-miR-4716-5p	PAR-CLIP	23446348
MIRT494157	hsa-miR-3185	PAR-CLIP	23446348
MIRT437564	hsa-miR-767-5p	PAR-CLIP	23446348
MIRT494156	hsa-miR-4504	PAR-CLIP	23446348
MIRT494155	hsa-miR-542-3p	PAR-CLIP	23446348
MIRT494154	hsa-miR-5682	PAR-CLIP	23446348
MIRT494153	hsa-miR-6808-3p	PAR-CLIP	23446348
MIRT524405	hsa-miR-758-3p	PAR-CLIP	23446348
MIRT001927	hsa-miR-29c-3p	PAR-CLIP	23592263
MIRT005568	hsa-miR-29b-3p	PAR-CLIP	23592263
MIRT003221	hsa-miR-29a-3p	PAR-CLIP	23592263
MIRT494164	hsa-miR-495-3p	PAR-CLIP	23592263
MIRT494163	hsa-miR-5688	PAR-CLIP	23592263
MIRT494162	hsa-miR-7-1-3p	PAR-CLIP	23592263
MIRT494161	hsa-miR-7-2-3p	PAR-CLIP	23592263
MIRT494160	hsa-miR-562	PAR-CLIP	23592263
MIRT494158	hsa-miR-6871-3p	PAR-CLIP	23592263
MIRT494159	hsa-miR-4716-5p	PAR-CLIP	23592263
MIRT494157	hsa-miR-3185	PAR-CLIP	23592263
MIRT437564	hsa-miR-767-5p	PAR-CLIP	23592263
MIRT494156	hsa-miR-4504	PAR-CLIP	23592263
MIRT494155	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT494154	hsa-miR-5682	PAR-CLIP	23592263
MIRT494153	hsa-miR-6808-3p	PAR-CLIP	23592263
MIRT902786	hsa-miR-124	CLIP-seq
MIRT902787	hsa-miR-1270	CLIP-seq
MIRT902788	hsa-miR-1279	CLIP-seq
MIRT902789	hsa-miR-203	CLIP-seq
MIRT902790	hsa-miR-2052	CLIP-seq
MIRT902791	hsa-miR-3591-5p	CLIP-seq
MIRT902792	hsa-miR-3606	CLIP-seq
MIRT902793	hsa-miR-3714	CLIP-seq
MIRT902794	hsa-miR-3910	CLIP-seq
MIRT902795	hsa-miR-4307	CLIP-seq
MIRT902796	hsa-miR-4531	CLIP-seq
MIRT902797	hsa-miR-506	CLIP-seq
MIRT902798	hsa-miR-620	CLIP-seq
MIRT902799	hsa-miR-921	CLIP-seq
MIRT1546964	hsa-let-7a	CLIP-seq
MIRT1546965	hsa-let-7b	CLIP-seq
MIRT1546966	hsa-let-7c	CLIP-seq
MIRT1546967	hsa-let-7d	CLIP-seq
MIRT1546968	hsa-let-7e	CLIP-seq
MIRT1546969	hsa-let-7f	CLIP-seq
MIRT1546970	hsa-let-7g	CLIP-seq
MIRT1546971	hsa-let-7i	CLIP-seq
MIRT1546972	hsa-miR-1229	CLIP-seq
MIRT902786	hsa-miR-124	CLIP-seq
MIRT902787	hsa-miR-1270	CLIP-seq
MIRT1546973	hsa-miR-1271	CLIP-seq
MIRT902788	hsa-miR-1279	CLIP-seq
MIRT1546974	hsa-miR-1294	CLIP-seq
MIRT1546975	hsa-miR-148a	CLIP-seq
MIRT1546976	hsa-miR-148b	CLIP-seq
MIRT1546977	hsa-miR-152	CLIP-seq
MIRT1546978	hsa-miR-182	CLIP-seq
MIRT1546979	hsa-miR-202	CLIP-seq
MIRT1546980	hsa-miR-205	CLIP-seq
MIRT1546981	hsa-miR-21	CLIP-seq
MIRT1546982	hsa-miR-2276	CLIP-seq
MIRT1546983	hsa-miR-296-3p	CLIP-seq
MIRT1546984	hsa-miR-298	CLIP-seq
MIRT1546985	hsa-miR-299-5p	CLIP-seq
MIRT1546986	hsa-miR-29a	CLIP-seq
MIRT1546987	hsa-miR-29b	CLIP-seq
MIRT1546988	hsa-miR-29c	CLIP-seq
MIRT1546989	hsa-miR-300	CLIP-seq
MIRT1546990	hsa-miR-3065-5p	CLIP-seq
MIRT1546991	hsa-miR-3140-3p	CLIP-seq
MIRT1546992	hsa-miR-3145-3p	CLIP-seq
MIRT1546993	hsa-miR-3152-3p	CLIP-seq
MIRT1546994	hsa-miR-337-3p	CLIP-seq
MIRT1546995	hsa-miR-33a	CLIP-seq
MIRT1546996	hsa-miR-33b	CLIP-seq
MIRT902791	hsa-miR-3591-5p	CLIP-seq
MIRT902792	hsa-miR-3606	CLIP-seq
MIRT1546997	hsa-miR-3616-5p	CLIP-seq
MIRT1546998	hsa-miR-3619-3p	CLIP-seq
MIRT1546999	hsa-miR-3647-3p	CLIP-seq
MIRT1547000	hsa-miR-3647-5p	CLIP-seq
MIRT1547001	hsa-miR-3649	CLIP-seq
MIRT1547002	hsa-miR-3650	CLIP-seq
MIRT1547003	hsa-miR-3678-3p	CLIP-seq
MIRT1547004	hsa-miR-3688-5p	CLIP-seq
MIRT1547005	hsa-miR-3692	CLIP-seq
MIRT1547006	hsa-miR-369-3p	CLIP-seq
MIRT902793	hsa-miR-3714	CLIP-seq
MIRT1547007	hsa-miR-374a	CLIP-seq
MIRT1547008	hsa-miR-374b	CLIP-seq
MIRT1547009	hsa-miR-377	CLIP-seq
MIRT1547010	hsa-miR-381	CLIP-seq
MIRT902794	hsa-miR-3910	CLIP-seq
MIRT1547011	hsa-miR-4255	CLIP-seq
MIRT1547012	hsa-miR-4279	CLIP-seq
MIRT1547013	hsa-miR-4291	CLIP-seq
MIRT1547014	hsa-miR-4328	CLIP-seq
MIRT1547015	hsa-miR-433	CLIP-seq
MIRT1547016	hsa-miR-4455	CLIP-seq
MIRT1547017	hsa-miR-4458	CLIP-seq
MIRT1547018	hsa-miR-4475	CLIP-seq
MIRT1547019	hsa-miR-4477b	CLIP-seq
MIRT1547020	hsa-miR-4500	CLIP-seq
MIRT1547021	hsa-miR-4520a-3p	CLIP-seq
MIRT1547022	hsa-miR-4520b-3p	CLIP-seq
MIRT902796	hsa-miR-4531	CLIP-seq
MIRT1547023	hsa-miR-4534	CLIP-seq
MIRT1547024	hsa-miR-4535	CLIP-seq
MIRT1547025	hsa-miR-4653-3p	CLIP-seq
MIRT1547026	hsa-miR-4661-5p	CLIP-seq
MIRT1547027	hsa-miR-4672	CLIP-seq
MIRT1547028	hsa-miR-4772-3p	CLIP-seq
MIRT1547029	hsa-miR-4775	CLIP-seq
MIRT1547030	hsa-miR-4776-5p	CLIP-seq
MIRT1547031	hsa-miR-4789-3p	CLIP-seq
MIRT1547032	hsa-miR-490-3p	CLIP-seq
MIRT1547033	hsa-miR-494	CLIP-seq
MIRT1547034	hsa-miR-495	CLIP-seq
MIRT902797	hsa-miR-506	CLIP-seq
MIRT1547035	hsa-miR-511	CLIP-seq
MIRT1547036	hsa-miR-513a-3p	CLIP-seq
MIRT1547037	hsa-miR-544	CLIP-seq
MIRT1547038	hsa-miR-545	CLIP-seq
MIRT1547039	hsa-miR-548aa	CLIP-seq
MIRT1547040	hsa-miR-573	CLIP-seq
MIRT1547041	hsa-miR-590-3p	CLIP-seq
MIRT1547042	hsa-miR-590-5p	CLIP-seq
MIRT902798	hsa-miR-620	CLIP-seq
MIRT1547043	hsa-miR-626	CLIP-seq
MIRT1547044	hsa-miR-629	CLIP-seq
MIRT1547045	hsa-miR-646	CLIP-seq
MIRT1547046	hsa-miR-659	CLIP-seq
MIRT1547047	hsa-miR-664	CLIP-seq
MIRT1547048	hsa-miR-758	CLIP-seq
MIRT902799	hsa-miR-921	CLIP-seq
MIRT1547049	hsa-miR-96	CLIP-seq
MIRT1547050	hsa-miR-98	CLIP-seq
MIRT1967727	hsa-miR-146b-3p	CLIP-seq
MIRT1967728	hsa-miR-3173-5p	CLIP-seq
MIRT1967729	hsa-miR-370	CLIP-seq
MIRT1967730	hsa-miR-4663	CLIP-seq
MIRT1967731	hsa-miR-4677-3p	CLIP-seq
MIRT1967732	hsa-miR-4679	CLIP-seq
MIRT1967733	hsa-miR-518a-5p	CLIP-seq
MIRT1967734	hsa-miR-527	CLIP-seq
MIRT1967735	hsa-miR-874	CLIP-seq
MIRT1546986	hsa-miR-29a	CLIP-seq
MIRT1546987	hsa-miR-29b	CLIP-seq
MIRT1546988	hsa-miR-29c	CLIP-seq
MIRT1547048	hsa-miR-758	CLIP-seq
MIRT1546964	hsa-let-7a	CLIP-seq
MIRT1546965	hsa-let-7b	CLIP-seq
MIRT1546966	hsa-let-7c	CLIP-seq
MIRT1546967	hsa-let-7d	CLIP-seq
MIRT1546968	hsa-let-7e	CLIP-seq
MIRT1546969	hsa-let-7f	CLIP-seq
MIRT1546970	hsa-let-7g	CLIP-seq
MIRT1546971	hsa-let-7i	CLIP-seq
MIRT1546972	hsa-miR-1229	CLIP-seq
MIRT902786	hsa-miR-124	CLIP-seq
MIRT2427581	hsa-miR-1245b-5p	CLIP-seq
MIRT902788	hsa-miR-1279	CLIP-seq
MIRT1546974	hsa-miR-1294	CLIP-seq
MIRT1546975	hsa-miR-148a	CLIP-seq
MIRT1546976	hsa-miR-148b	CLIP-seq
MIRT1546977	hsa-miR-152	CLIP-seq
MIRT2427582	hsa-miR-186	CLIP-seq
MIRT1546979	hsa-miR-202	CLIP-seq
MIRT1546980	hsa-miR-205	CLIP-seq
MIRT1546981	hsa-miR-21	CLIP-seq
MIRT1546982	hsa-miR-2276	CLIP-seq
MIRT1546983	hsa-miR-296-3p	CLIP-seq
MIRT1546984	hsa-miR-298	CLIP-seq
MIRT1546990	hsa-miR-3065-5p	CLIP-seq
MIRT2427583	hsa-miR-3132	CLIP-seq
MIRT2427584	hsa-miR-3133	CLIP-seq
MIRT2427585	hsa-miR-3134	CLIP-seq
MIRT2427586	hsa-miR-3142	CLIP-seq
MIRT2427587	hsa-miR-326	CLIP-seq
MIRT2427588	hsa-miR-330-5p	CLIP-seq
MIRT1546994	hsa-miR-337-3p	CLIP-seq
MIRT1546995	hsa-miR-33a	CLIP-seq
MIRT1546996	hsa-miR-33b	CLIP-seq
MIRT902791	hsa-miR-3591-5p	CLIP-seq
MIRT2427589	hsa-miR-3607-3p	CLIP-seq
MIRT2427590	hsa-miR-3613-3p	CLIP-seq
MIRT1546999	hsa-miR-3647-3p	CLIP-seq
MIRT2427591	hsa-miR-3653	CLIP-seq
MIRT2427592	hsa-miR-3658	CLIP-seq
MIRT2427593	hsa-miR-3675-3p	CLIP-seq
MIRT1547003	hsa-miR-3678-3p	CLIP-seq
MIRT2427594	hsa-miR-3686	CLIP-seq
MIRT2427595	hsa-miR-3689a-5p	CLIP-seq
MIRT2427596	hsa-miR-3689b	CLIP-seq
MIRT2427597	hsa-miR-3689d	CLIP-seq
MIRT2427598	hsa-miR-3689e	CLIP-seq
MIRT2427599	hsa-miR-3689f	CLIP-seq
MIRT1547006	hsa-miR-369-3p	CLIP-seq
MIRT902793	hsa-miR-3714	CLIP-seq
MIRT2427600	hsa-miR-374c	CLIP-seq
MIRT1547009	hsa-miR-377	CLIP-seq
MIRT902794	hsa-miR-3910	CLIP-seq
MIRT2427601	hsa-miR-3973	CLIP-seq
MIRT2427602	hsa-miR-4252	CLIP-seq
MIRT1547011	hsa-miR-4255	CLIP-seq
MIRT1547012	hsa-miR-4279	CLIP-seq
MIRT2427603	hsa-miR-4305	CLIP-seq
MIRT2427604	hsa-miR-4443	CLIP-seq
MIRT2427605	hsa-miR-4452	CLIP-seq
MIRT1547017	hsa-miR-4458	CLIP-seq
MIRT1547020	hsa-miR-4500	CLIP-seq
MIRT2427606	hsa-miR-4502	CLIP-seq
MIRT1547021	hsa-miR-4520a-3p	CLIP-seq
MIRT1547022	hsa-miR-4520b-3p	CLIP-seq
MIRT1547023	hsa-miR-4534	CLIP-seq
MIRT2427607	hsa-miR-4643	CLIP-seq
MIRT2427608	hsa-miR-4650-3p	CLIP-seq
MIRT1547025	hsa-miR-4653-3p	CLIP-seq
MIRT2427609	hsa-miR-466	CLIP-seq
MIRT2427610	hsa-miR-4666-5p	CLIP-seq
MIRT2427611	hsa-miR-4667-5p	CLIP-seq
MIRT1547027	hsa-miR-4672	CLIP-seq
MIRT2427612	hsa-miR-4700-5p	CLIP-seq
MIRT2427613	hsa-miR-4729	CLIP-seq
MIRT2427614	hsa-miR-4762-3p	CLIP-seq
MIRT1547028	hsa-miR-4772-3p	CLIP-seq
MIRT1547031	hsa-miR-4789-3p	CLIP-seq
MIRT2427615	hsa-miR-488	CLIP-seq
MIRT1547033	hsa-miR-494	CLIP-seq
MIRT1547034	hsa-miR-495	CLIP-seq
MIRT902797	hsa-miR-506	CLIP-seq
MIRT1547035	hsa-miR-511	CLIP-seq
MIRT1967733	hsa-miR-518a-5p	CLIP-seq
MIRT2427616	hsa-miR-520d-5p	CLIP-seq
MIRT2427617	hsa-miR-520g	CLIP-seq
MIRT2427618	hsa-miR-520h	CLIP-seq
MIRT2427619	hsa-miR-524-5p	CLIP-seq
MIRT1967734	hsa-miR-527	CLIP-seq
MIRT1547037	hsa-miR-544	CLIP-seq
MIRT1547039	hsa-miR-548aa	CLIP-seq
MIRT2427620	hsa-miR-548ac	CLIP-seq
MIRT2427621	hsa-miR-548ae	CLIP-seq
MIRT2427622	hsa-miR-548aj	CLIP-seq
MIRT2427623	hsa-miR-548am	CLIP-seq
MIRT2427624	hsa-miR-548d-3p	CLIP-seq
MIRT2427625	hsa-miR-548k	CLIP-seq
MIRT2427626	hsa-miR-548x	CLIP-seq
MIRT2427627	hsa-miR-548z	CLIP-seq
MIRT2427628	hsa-miR-556-3p	CLIP-seq
MIRT1547042	hsa-miR-590-5p	CLIP-seq
MIRT1547043	hsa-miR-626	CLIP-seq
MIRT2427629	hsa-miR-627	CLIP-seq
MIRT1547045	hsa-miR-646	CLIP-seq
MIRT2427630	hsa-miR-655	CLIP-seq
MIRT2427631	hsa-miR-924	CLIP-seq
MIRT1547050	hsa-miR-98	CLIP-seq
MIRT2436294	hsa-miR-1228	CLIP-seq
MIRT1546972	hsa-miR-1229	CLIP-seq
MIRT1546975	hsa-miR-148a	CLIP-seq
MIRT1546976	hsa-miR-148b	CLIP-seq
MIRT1546977	hsa-miR-152	CLIP-seq
MIRT1546983	hsa-miR-296-3p	CLIP-seq
MIRT1546984	hsa-miR-298	CLIP-seq
MIRT1546986	hsa-miR-29a	CLIP-seq
MIRT1546987	hsa-miR-29b	CLIP-seq
MIRT1546988	hsa-miR-29c	CLIP-seq
MIRT2427585	hsa-miR-3134	CLIP-seq
MIRT1546995	hsa-miR-33a	CLIP-seq
MIRT1546996	hsa-miR-33b	CLIP-seq
MIRT1547009	hsa-miR-377	CLIP-seq
MIRT2427606	hsa-miR-4502	CLIP-seq
MIRT1547023	hsa-miR-4534	CLIP-seq
MIRT1547025	hsa-miR-4653-3p	CLIP-seq
MIRT1547027	hsa-miR-4672	CLIP-seq
MIRT1967732	hsa-miR-4679	CLIP-seq
MIRT2427614	hsa-miR-4762-3p	CLIP-seq
MIRT1547034	hsa-miR-495	CLIP-seq
MIRT1547046	hsa-miR-659	CLIP-seq
MIRT2436295	hsa-miR-9	CLIP-seq
MIRT2436294	hsa-miR-1228	CLIP-seq
MIRT902789	hsa-miR-203	CLIP-seq
MIRT1546984	hsa-miR-298	CLIP-seq
MIRT1546986	hsa-miR-29a	CLIP-seq
MIRT1546987	hsa-miR-29b	CLIP-seq
MIRT1546988	hsa-miR-29c	CLIP-seq
MIRT2506556	hsa-miR-3915	CLIP-seq
MIRT2506557	hsa-miR-3928	CLIP-seq
MIRT1967732	hsa-miR-4679	CLIP-seq
MIRT1547046	hsa-miR-659	CLIP-seq
MIRT2436295	hsa-miR-9	CLIP-seq
MIRT902789	hsa-miR-203	CLIP-seq
MIRT1546984	hsa-miR-298	CLIP-seq
MIRT1546991	hsa-miR-3140-3p	CLIP-seq
MIRT1546997	hsa-miR-3616-5p	CLIP-seq
MIRT1547000	hsa-miR-3647-5p	CLIP-seq
MIRT2506556	hsa-miR-3915	CLIP-seq
MIRT2506557	hsa-miR-3928	CLIP-seq
MIRT1547014	hsa-miR-4328	CLIP-seq
MIRT1547019	hsa-miR-4477b	CLIP-seq
MIRT1967732	hsa-miR-4679	CLIP-seq
MIRT1547040	hsa-miR-573	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
LMX1B	Unknown	12602071

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IMP	20818663
GO:0005201	Function	Extracellular matrix structural constituent	IEA
GO:0005201	Function	Extracellular matrix structural constituent	IMP	20818663
GO:0005515	Function	Protein binding	IPI	12011424
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005587	Component	Collagen type IV trimer	IBA
GO:0005587	Component	Collagen type IV trimer	IEA
GO:0005587	Component	Collagen type IV trimer	IMP	16107487
GO:0005604	Component	Basement membrane	IC	23065703
GO:0005604	Component	Basement membrane	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007420	Process	Brain development	IMP	16107487
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	HDA	28344315
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IBA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IMP	16107487
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	23979707, 25037231, 27068509, 27559042, 28327460, 28675934
GO:0030855	Process	Epithelial cell differentiation	IEA
GO:0031012	Component	Extracellular matrix	HDA	23658023, 23979707, 25037231, 27068509, 27559042, 28327460, 28344315, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	ISS	22261194
GO:0038063	Process	Collagen-activated tyrosine kinase receptor signaling pathway	IEA
GO:0048407	Function	Platelet-derived growth factor binding	IDA	8900172
GO:0048514	Process	Blood vessel morphogenesis	IMP	20818663
GO:0061304	Process	Retinal blood vessel morphogenesis	IMP	20818663
GO:0061333	Process	Renal tubule morphogenesis	IMP	18160688
GO:0071230	Process	Cellular response to amino acid stimulus	IEA
GO:0071711	Process	Basement membrane organization	IMP	18160688, 19949034, 23065703

MIM	HGNC	e!Ensembl
120130	2202	ENSG00000187498

P02462

Protein name

Collagen alpha-1(IV) chain [Cleaved into: Arresten]

Protein function

Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. ; Arresten, compris

PDB

1LI1 , 5NAX , 5NAY , 6MPX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01391	Collagen	37 → 105	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	61 → 138	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	97 → 162	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	167 → 225	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	273 → 334	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	474 → 533	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	539 → 592	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	643 → 690	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	689 → 737	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	736 → 801	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	837 → 896	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	882 → 941	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	943 → 1005	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	999 → 1058	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1057 → 1117	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1384 → 1443	Collagen triple helix repeat (20 copies)	Repeat
PF01413	C4	1446 → 1553	C-terminal tandem repeated domain in type 4 procollagen	Domain
PF01413	C4	1556 → 1667	C-terminal tandem repeated domain in type 4 procollagen	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in placenta. {ECO:0000269|PubMed:10811134, ECO:0000269|PubMed:16481288}.

Sequence

MGPRLSVWLLLLPAALLLHEEHSRAAAKGGCAGSGCGKCDCHGVKGQKGERGLPGLQGVI
GFPGMQGPEGPQGPPGQKGDTGEPGLPGTKGTRGPPGASGYPGNPGLPGIPGQDGPPGPP
GIPGCNGTKGERGPLGPPGLPGFAGNPGPPGLPGMKGDPGEILGHVPGMLLKGERGFPGI
PGTPGPPGLPGLQGPVGPPGFTGPPGPPGPPGPPGEKGQMGLSFQGPKGDKGDQGVSGPP
GVPGQAQVQEKGDFATKGEKGQKGEPGFQGMPGVGEKGEPGKPGPRGKPGKDGDKGEKGS
PGFPGEPGYPGLIGRQGPQGEKGEAGPPGPPGIVIGTGPLGEKGERGYPGTPGPRGEPGP
KGFPGLPGQPGPPGLPVPGQAGAPGFPGERGEKGDRGFPGTSLPGPSGRDGLPGPPGSPG
PPGQPGYTNGIVECQPGPPGDQGPPGIPGQPGFIGEIGEKGQKGESCLICDIDGYRGPPG
PQGPPGEIGFPGQPGAKGDRGLPGRDGVAGVPGPQGTPGLIGQPGAKGEPGEFYFDLRLK
GDKGDPGFPGQPGMPGRAGSPGRDGHPGLPGPKGSPGSVGLKGERGPPGGVGFPGSRGDT
GPPGPPGYGPAGPIGDKGQAGFPGGPGSPGLPGPKGEPGKIVPLPGPPGAEGLPGSPGFP
GPQGDRGFPGTPGRPGLPGEKGAVGQPGIGFPGPPGPKGVDGLPGDMGPPGTPGRPGFNG
LPGNPGVQGQKGEPGVGLPGLKGLPGLPGIPGTPGEKGSIGVPGVPGEHGAIGPPGLQGI
RGEPGPPGLPGSVGSPGVPGIGPPGARGPPGGQGPPGLSGPPGIKGEKGFPGFPGLDMPG
PKGDKGAQGLPGITGQSGLPGLPGQQGAPGIPGFPGSKGEMGVMGTPGQPGSPGPVGAPG
LPGEKGDHGFPGSSGPRGDPGLKGDKGDVGLPGKPGSMDKVDMGSMKGQKGDQGEKGQIG
PIGEKGSRGDPGTPGVPGKDGQAGQPGQPGPKGDPGISGTPGAPGLPGPKGSVGGMGLPG
TPGEKGVPGIPGPQGSPGLPGDKGAKGEKGQAGPPGIGIPGLRGEKGDQGIAGFPGSPGE
KGEKGSIGIPGMPGSPGLKGSPGSVGYPGSPGLPGEKGDKGLPGLDGIPGVKGEAGLPGT
PGPTGPAGQKGEPGSDGIPGSAGEKGEPGLPGRGFPGFPGAKGDKGSKGEVGFPGLAGSP
GIPGSKGEQGFMGPPGPQGQPGLPGSPGHATEGPKGDRGPQGQPGLPGLPGPMGPPGLPG
IDGVKGDKGNPGWPGAPGVPGPKGDPGFQGMPGIGGSPGITGSKGDMGPPGVPGFQGPKG
LPGLQGIKGDQGDQGVPGAKGLPGPPGPPGPYDIIKGEPGLPGPEGPPGLKGLQGLPGPK
GQQGVTGLVGIPGPPGIPGFDGAPGQKGEMGPAGPTGPRGFPGPPGPDGLPGSMGPPGTP
SVDHGFLVTRHSQTIDDPQCPSGTKILYHGYSLLYVQGNERAHGQDLGTAGSCLRKFSTM
PFLFCNINNVCNFASRNDYSYWLSTPEPMPMSMAPITGENIRPFISRCAVCEAPAMVMAV
HSQTIQIPPCPSGWSSLWIGYSFVMHTSAGAEGSGQALASPGSCLEEFRSAPFIECHGRG
TCNYYANAYSFWLATIERSEMFKKPTPSTLKAGELRTHVSRCQVCMRRT

Sequence length

1669

Interactions

View interactions

2107

Show/Hide Causal Diseases (30)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal cerebral cortex morphology	Likely pathogenic; Pathogenic	rs766209938	RCV001391264
Abnormal cerebral morphology	Pathogenic	rs1566378788	RCV002275899
Abnormal corpus callosum morphology	Pathogenic	rs587780588	RCV001391278
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome	Likely pathogenic; Pathogenic	rs375477517, rs2139146298, rs1594535661, rs2139179173, rs2139146179, rs1877827904, rs1436175370, rs2139163150, rs672601346, rs2501749650, rs2501792333, rs2501800825, rs780492563, rs1879237220, rs112314120 View all (26 more)	RCV002246414 RCV002246469 RCV005005287 RCV001823797 RCV001837730 RCV002484524 RCV005006307 RCV002273284 RCV000989163 RCV002468826 RCV002468828 RCV002470464 RCV005010958 RCV005002854 RCV003142254 RCV003153199 RCV003322721 RCV005003655 RCV005013014 RCV003984909 RCV003991094 RCV003991357 RCV003991372 RCV000018961 RCV000018962 RCV000018963 RCV000018966 RCV000018967 RCV000018968 RCV004545953 RCV004555327 RCV002502498 RCV002248658 RCV003322607 RCV000989164 RCV000995720 RCV001281220 RCV001281219 RCV001281218 RCV001281217 RCV001251513
Brain small vessel disease 1 with or without ocular anomalies	Pathogenic; Likely pathogenic	rs542803991, rs1877518903, rs1878012979, rs2139156007, rs766209938, rs375477517, rs2139245731, rs2139154554, rs2139146298, rs2139165506, rs2139169623, rs1594535661, rs2139163058, rs2139165584, rs2139162416 View all (80 more)	RCV002246309 RCV002246308 RCV002246306 RCV002246349 RCV002250761 RCV002246414 RCV002246461 RCV002246467 RCV002246469 RCV002246482 RCV004564713 RCV002246513 RCV002246527 RCV002246529 RCV002246531 RCV002246544 RCV002247500 RCV002484524 RCV002247502 RCV005006307 RCV003994375 RCV005622158 RCV002246663 RCV002246664 RCV002246665 RCV002246695 RCV002247701 RCV002247702 RCV002247704 RCV002247705 RCV002249004 RCV002286505 RCV002287285 RCV002287871 RCV002247542 RCV002247543 RCV002247544 RCV002247545 RCV002247546 RCV002247547 RCV002466316 RCV002466810 RCV002468827 RCV005010958 RCV005002854 RCV002247615 RCV000191072 RCV003148416 RCV003223539 RCV003232909 RCV003319597 RCV003333547 RCV003335817 RCV003479586 RCV005003655 RCV003493321 RCV003493328 RCV003493352 RCV003494092 RCV005013014 RCV005003746 RCV003988706 RCV005937390 RCV002247361 RCV002247362 RCV002247363 RCV002247364 RCV002247365 RCV002247366 RCV002247367 RCV002247368 RCV004555494 RCV004577206 RCV002248650 RCV003988844 RCV002283479 RCV002248658 RCV004584728 RCV002248739 RCV002248744 RCV003227850 RCV002249490 RCV002307636 RCV002249602 RCV001027681 RCV002249672 RCV006449280 RCV002271619 RCV002249683 RCV002246242 RCV002246246 RCV002246256 RCV002246257 RCV002246258 RCV004017815 RCV002246270 RCV002246276
Cerebral calcification	Pathogenic	rs587780588	RCV001030993
Cerebral palsy	Pathogenic; Likely pathogenic	rs2139149224, rs2139187274	RCV001796563 RCV001796560
COL4A1 or COL4A2-related cerebral small vessel disease	Likely pathogenic; Pathogenic	rs375477517, rs2139156247, rs2501780064	RCV003225188 RCV002471200 RCV002471731
COL4A1-related disorder	Likely pathogenic; Pathogenic	rs2139154447, rs2139163058, rs1877827904, rs1879237220, rs797044867, rs797045034, rs2139165126, rs2501757578, rs2501780562, rs2501538404, rs2139162955, rs2501770978, rs113994108, rs672601347, rs1878248687, rs1876543576 View all (1 more)	RCV006270515 RCV006262003 RCV004529048 RCV004725327 RCV003335188 RCV004739575 RCV003335910 RCV004531559 RCV004529255 RCV004542630 RCV004542652 RCV004006207 RCV006249561 RCV004739722 RCV003763804 RCV004727057
Colpocephaly	Likely pathogenic; Pathogenic	rs766209938	RCV001391264
Congenital anomaly of kidney and urinary tract	Likely pathogenic	rs2139163073	RCV001849677
Corpus callosum, agenesis of	Likely pathogenic; Pathogenic	rs766209938	RCV001391264
Developmental cataract	Pathogenic	rs113994108	RCV001775002
EBV-positive nodal T- and NK-cell lymphoma	Likely pathogenic	rs112314120	RCV004560094
Hemorrhage, intracerebral, susceptibility to	Likely pathogenic; Pathogenic	rs375477517, rs2139146298, rs1594535661, rs1877827904, rs587780588, rs1436175370, rs780492563, rs1879237220, rs1879717674, rs201606177, rs2501791888, rs672601347	RCV002246414 RCV002246469 RCV005005287 RCV002484524 RCV006250119 RCV005006307 RCV005010958 RCV005002854 RCV005003655 RCV005013014 RCV005003746 RCV002502498
Intracranial hemorrhage	Pathogenic	rs587780588	RCV001030993
Intraventricular hemorrhage	Pathogenic	rs587780588	RCV001391278
Irido-corneo-trabecular dysgenesis	Likely pathogenic; Pathogenic	rs766346293	RCV003389588
Keratoconus	Likely pathogenic	rs761712661	RCV003324670
Melanoma	Likely pathogenic	rs2501580028	RCV005934625
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	Likely pathogenic; Pathogenic	rs375477517, rs2139146298, rs1594535661, rs1877904298, rs1877827904, rs1436175370, rs2501592907, rs780492563, rs1879237220, rs797044867, rs1879717674, rs201606177, rs2501791888, rs2501783763, rs672601347 View all (5 more)	RCV002246414 RCV002246469 RCV005005287 RCV001808019 RCV002484524 RCV005006307 RCV002468829 RCV005010958 RCV005002854 RCV002283465 RCV005003655 RCV005013014 RCV005003746 RCV005937390 RCV002502498 RCV001824139 RCV000850144 RCV000850145 RCV000850146 RCV000850147 RCV001027681
Microcephaly	Likely pathogenic	rs1877701802	RCV001375492
Nonpapillary renal cell carcinoma	Likely pathogenic	rs2501600650	RCV005931652
Optic nerve hypoplasia	Pathogenic	rs1555303073	RCV000590892
Porencephaly	Pathogenic	rs2139160399	RCV001526631
Retinal arterial tortuosity	Likely pathogenic; Pathogenic	rs375477517, rs2139146298, rs1594535661, rs1877827904, rs587780588, rs1436175370, rs780492563, rs1879237220, rs1879717674, rs201606177, rs2501791888, rs267606743, rs672601347	RCV002246414 RCV002246469 RCV005005287 RCV002484524 RCV006250119 RCV005006307 RCV005010958 RCV005002854 RCV005003655 RCV005013014 RCV005003746 RCV000170340 RCV002502498
Sarcoma	Likely pathogenic	rs1363290269	RCV005926768
See cases	Likely pathogenic; Pathogenic	rs1594535661, rs1876543576	RCV002252706 RCV003153965
Seizure	Likely pathogenic	rs2139187383	RCV002275898
Uterine corpus endometrial carcinoma	Pathogenic	rs1085307816	RCV005899717

Show/Hide Unknown Diseases (24)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs150857429	RCV005891959
Anterior segment dysgenesis	Conflicting classifications of pathogenicity	rs878853070	RCV001200033
Cervical cancer	Benign; Likely benign	rs77875306, rs150857429, rs140722653, rs372969177	RCV005919685 RCV005891960 RCV005893175 RCV005906599
Chronic kidney disease	Conflicting classifications of pathogenicity	rs34004222	RCV001171323
Clear cell carcinoma of kidney	Benign; Likely benign	rs150857429, rs140722653, rs75711155	RCV005891961 RCV005893176 RCV005893184
Colon adenocarcinoma	Benign; Likely benign	rs150857429, rs140722653	RCV005891957 RCV005893173
Familial cancer of breast	Benign; Likely benign	rs16975491, rs150857429, rs9588116, rs41275104, rs377592935	RCV005924979 RCV005891956 RCV005892512 RCV005892513 RCV005893182
Gastric cancer	Benign; Likely benign	rs77875306, rs59694732, rs150857429	RCV005919686 RCV005921875 RCV005891962
HANAC-like syndrome	Conflicting classifications of pathogenicity	rs372750171	RCV001849704
Hepatocellular carcinoma	Benign; Likely benign	rs12869391, rs140722653	RCV005918388 RCV005893174
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance	rs138266832, rs2501773096	RCV005626603 RCV005626866
Lung cancer	Benign	rs59694732	RCV005921877
Malignant lymphoma, large B-cell, diffuse	Benign	rs12869391	RCV005918389
Malignant tumor of esophagus	Benign; Likely benign	rs111757791, rs77875306, rs59694732, rs150857429	RCV005916662 RCV005919684 RCV005921873 RCV005891958
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs73611475, rs150857429, rs140722653, rs115358624	RCV005919416 RCV005891963 RCV005893178 RCV005893187
Pancreatic adenocarcinoma	Benign	rs532625	RCV005892511
Porencephalic cyst	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	rs183563055, rs145172612, rs61749897, rs9521650, rs3742207, rs2275843, rs1133219, rs589985, rs536174, rs677877, rs3832900, rs532625, rs41275104, rs755709828, rs377503687 View all (45 more)	RCV000329042 RCV000264390 RCV000398021 RCV000283020 RCV000269625 RCV000286571 RCV000283179 RCV000270389 RCV000359055 RCV000376905 RCV000386441 RCV000333020 RCV000310339 RCV000407581 RCV000273832 RCV000301844 RCV000328832 RCV000281911 RCV000377225 RCV000259844 RCV000266438 RCV000304666 RCV000390370 RCV000380784 RCV000275184 RCV000356814 RCV000313604 RCV000300001 RCV000260071 RCV000376686 RCV000315987 RCV000320110 RCV000304294 RCV000261098 RCV000264472 RCV000371728 RCV000334344 RCV000338541 RCV000389348 RCV000276504 RCV000400699 RCV000301533 RCV000309448 RCV000275704 RCV000371487 RCV000323748 RCV000286374 RCV000383004 RCV000384815 RCV000381612 RCV000338874 RCV000261160 RCV000322030 RCV000297590 RCV000303358 RCV000345989 RCV000399692 RCV000351415 RCV000301792 RCV000280507
Primary membranoproliferative glomerulonephritis	Conflicting classifications of pathogenicity	rs201116557	RCV005626511
Proteinuria	Conflicting classifications of pathogenicity	rs773791331	RCV005621900
Schizencephaly	Conflicting classifications of pathogenicity	rs145172612, rs751749989	RCV000763877 RCV000763878
Thymoma	Benign; Likely benign	rs77875306, rs59694732, rs150857429, rs75711155	RCV005919687 RCV005921876 RCV005891964 RCV005893186
Thyroid cancer, nonmedullary, 1	Benign; Uncertain significance; Likely benign	rs578161281, rs1445318211, rs150857429, rs140722653	RCV005926308 RCV005929846 RCV005891965 RCV005893180
Uterine carcinosarcoma	Benign; Conflicting classifications of pathogenicity; Likely benign	rs12869391, rs183563055, rs41275104, rs140722653	RCV005918390 RCV005889881 RCV005892514 RCV005893179
Vascular dementia	Uncertain significance; Benign; Likely benign	rs2138415337, rs1878014262, rs140517831	RCV002051757 RCV001263179 RCV001263180

Show/Hide Text Mining Associations (150)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
13q deletion syndrome	Associate	28393221
Adenocarcinoma	Associate	33905434, 36452120
Alveolar capillary dysplasia	Associate	38029923
Alzheimer Disease	Associate	34551193, 37264161
Anemia Hemolytic	Associate	24861536
Angiopathy Hereditary With Nephropathy Aneurysms And Muscle Cramps	Associate	18160688, 19949034, 22522439, 25873210, 27190376, 29395486
Arthritis Rheumatoid	Associate	29482039
Astrocytoma	Associate	23737970
Atherosclerosis	Associate	29482039
Autistic Disorder	Associate	28846756, 32499604
Blood Coagulation Disorders	Associate	37427422
Blood Platelet Disorders	Associate	35150448
Bone Diseases	Associate	17900349
Bowen's Disease	Associate	36085041
Brain Infarction	Associate	37427422
Brain Injuries Diffuse	Associate	32515830
Brain Neoplasms	Associate	20063114
Breast Neoplasms	Associate	27891193, 34541602, 35937944, 39529627
Cakut	Associate	31230195
Carcinogenesis	Associate	31905170, 32801999
Carcinoma Hepatocellular	Associate	27545991
Carcinoma Hepatocellular	Stimulate	31905170
Carcinoma Squamous Cell	Associate	36085041
Cardiomyopathies	Associate	25457163
Cardiomyopathy Dilated	Associate	36504316
Cardiovascular Abnormalities	Associate	37157232
Cardiovascular Diseases	Associate	28393221, 30423812, 38459180
Cataract	Associate	25124159, 25457163, 34014271, 36161833
Cataract Autosomal Dominant	Associate	25124159
Cataract microcornea syndrome	Associate	24628545
Central Nervous System Diseases	Associate	37157232
Cerebral Hemorrhage	Associate	16107487, 22522439, 23065703, 27190376, 28185542, 32515830, 33247988, 35943828, 36300346
Cerebral Hemorrhage Traumatic	Associate	37562171
Cerebral Infarction	Associate	25873210, 33148145
Cerebral Intraventricular Hemorrhage	Associate	19840616
Cerebral Palsy	Associate	22098125, 35076175
Cerebral Small Vessel Diseases	Associate	19840616, 19949034, 23065703, 25873210, 30859180, 31430377, 31719132, 33268848, 35307828, 36300346, 37157232
Cerebrovascular Disorders	Associate	19949034, 22522439, 24628545, 37157232
Cognition Disorders	Associate	33268848, 35307828
Colorectal Neoplasms	Associate	31469863
Congenital Abnormalities	Associate	32515830
Constriction Pathologic	Associate	34415564
Coronary Artery Disease	Associate	21966275, 24156251, 28642624, 35472719
Coronary Disease	Associate	23727086, 27389912
Cysts	Associate	30413629
Dementia Multi Infarct	Associate	34415564
Dental Plaque	Associate	29482039
Depressive Disorder	Associate	36982982
Developmental Disabilities	Associate	36504316
Diabetic Nephropathies	Associate	36949528
Disease	Associate	24861536
Drug Resistant Epilepsy	Associate	36504316, 40055992
Early Onset Glaucoma	Associate	29390993
Epilepsy	Associate	30413629, 36504316, 40055992
Esophageal Squamous Cell Carcinoma	Associate	31485619, 36290884, 39256753
Eye Abnormalities	Associate	24628545, 25457163
Familial schizencephaly	Associate	25500781, 32515830, 37562171
Familial vascular leukoencephalopathy	Associate	34415564, 36786861
Fetal Alcohol Spectrum Disorders	Associate	37157232
Fetal Diseases	Associate	36504316
Fibrosis	Associate	39201682
Foramen Ovale Patent	Associate	34415564
Gastritis Atrophic	Associate	37868053
Genetic Diseases Inborn	Associate	23065703, 25873210
Glioblastoma	Associate	23737970, 38286983
Glioma	Associate	34565019
Glomerulonephritis IGA	Associate	35351150
Glomerulosclerosis Focal Segmental	Associate	35306494
Heart Defects Congenital	Associate	28393221
Heart Septal Defects Ventricular	Associate	30423812
Hematuria	Associate	18160688
Hemiplegia	Associate	19949034
Hemorrhage	Associate	16107487, 19840616, 22098125, 25500781, 32515830
Hemorrhagic Stroke	Associate	19949034, 25873210
Hydrocephalus	Associate	36504316
Hypersensitivity Delayed	Associate	25873210
Hypertension	Associate	23727086
Idiopathic Pulmonary Fibrosis	Associate	33905434
Infantile Epileptic Dyskinetic Encephalopathy	Associate	25873210
Infertility	Associate	31201347
Inflammation	Associate	32801999
Intellectual Disability	Associate	28846756, 35837997
Intracranial Aneurysm	Associate	18160688, 30087447
Intracranial Hemorrhages	Associate	25500781, 35150448, 36504316, 37562171, 39794016
Jaundice	Associate	24861536
Kashin Beck Disease	Associate	32816579
Keratoconus	Associate	21527998, 32165822
Kidney Diseases	Associate	24628545, 27190376
Kidney Diseases Cystic	Associate	18160688
Lennox Gastaut Syndrome	Associate	28846756
Leukoencephalopathies	Associate	16107487, 23065703, 25873210, 33148145, 35803560
Lymphoma	Inhibit	12716467
Lymphoma Large B Cell Diffuse	Associate	12716467
Malformations of Cortical Development	Associate	36504316
Mastocytosis Systemic	Associate	18160688
Melanosis	Associate	35840442
Metabolic Diseases	Associate	35943828
Microphthalmia Syndromic 6	Associate	35943828
Microphthalmos	Associate	24628545
Motor Disorders	Associate	25873210
Mouth Neoplasms	Associate	21549012
Muscle Cramp	Associate	18160688, 27190376
Muscle Weakness	Associate	40055992
Myocardial Infarction	Associate	23727086, 27389912, 28642624
Myofibroma	Associate	33830670
Myopia	Associate	29346494
Neoplasm Metastasis	Associate	25887589
Neoplasms	Associate	12716467, 25887589, 27545991, 28072738, 28837258, 38065896
Neoplasms	Inhibit	16151532
Neoplasms	Stimulate	37800754
Neoplasms Squamous Cell	Associate	29914539
Neoplastic Syndromes Hereditary	Associate	18160688, 27190376
Neurodegenerative Diseases	Associate	30413629, 35307828
Neurologic Manifestations	Associate	30413629
Neuroma Acoustic	Associate	34691289
Non Muscle Invasive Bladder Neoplasms	Associate	28837258
Nonsyndromic Deafness	Associate	29346494
Obesity	Associate	23251661
Optic Nerve Hypoplasia	Associate	32040484
Orofacial Cleft 1	Associate	21052871
Osteoarthritis	Associate	17900349, 27356888
Osteoporosis	Associate	32496000
Ovarian Neoplasms	Associate	35047055
Parkinson Disease	Associate	28185542
Pediatric Obesity	Associate	22098125
Peters anomaly	Associate	24628545
Polycystic Kidney Autosomal Dominant	Associate	29395486
Polycystic Kidney Diseases	Associate	29395486
Polymicrogyria	Associate	36504316, 37486637
Porencephaly	Associate	16107487, 19949034, 22209246, 22522439, 23065703, 24861536, 25500781, 25873210, 27190376, 29395486, 32040484, 32515830, 36065636, 37562171
Pre Eclampsia	Associate	24331737, 26010865
Prostatic Neoplasms	Associate	29206234, 35082164
Pterygium	Associate	31341891
Renal Insufficiency Chronic	Associate	27190376, 31721901
Seizures	Associate	25873210, 30413629
Septo Optic Dysplasia	Associate	37157232
Squamous Cell Carcinoma of Head and Neck	Associate	18669583, 32015424, 34999279, 35426219
Stiff Skin Syndrome	Associate	28642624
Stomach Neoplasms	Stimulate	29512712
Stomach Neoplasms	Associate	29921304, 30804389, 32058995, 32293980, 32801999, 35297303, 36690975, 37800754, 37868053, 38041130
Stroke	Associate	32106772, 36300346, 36958462
Stroke Lacunar	Associate	34415564
Syndrome	Associate	18160688, 28846756
Synesthesia	Associate	29507195
Urethral Neoplasms	Associate	28837258
Urinary Bladder Neoplasms	Stimulate	28837258, 33234027
Urinary Bladder Neoplasms	Associate	32390597
Uterine Cervical Neoplasms	Associate	36683048
Vesico Ureteral Reflux	Associate	31230195
Walker Warburg Syndrome	Associate	25873210

COL4A1 (collagen type IV alpha 1 chain)